|Institutional Source||Beutler Lab|
|Gene Name||cathepsin C|
|Synonyms||DPPI, dipeptidylpeptidase 1, DPP1|
|Is this an essential gene?||Probably non essential (E-score: 0.066)|
|Stock #||R7254 (G1)|
|Chromosomal Location||88278085-88310888 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 88309559 bp (GRCm38)|
|Amino Acid Change||Glycine to Aspartic acid at position 349 (G349D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032779 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032779] [ENSMUST00000128791]|
AA Change: G349D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G349D
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the dipeptidyl peptidase 1 light, heavy, and exclusion domain chains, which together comprise one subunit of the homotetrameric enzyme. This enzyme has amino dipeptidase activity and may play a role in the activation of granzymes during inflammation. Homozygous knockout mice for this gene exhibit impaired granzyme activation and enhanced survival in a sepsis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctsc||
(F):5'- GCAGAGTATAGAAGTTGTGCCTG -3'
(R):5'- CAGCATGATTTGTCAGCTCG -3'
(F):5'- ATAGAAGTTGTGCCTGCCTTC -3'
(R):5'- CATGATTTGTCAGCTCGAAGGG -3'